Kidney Diseases, Cystic

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  Subject Areas on Research

  • A systematic approach to mapping recessive disease genes in individuals from outbred populations. 
  • A transition zone complex regulates mammalian ciliogenesis and ciliary membrane composition. 
  • ACR Appropriateness Criteria indeterminate renal mass. 
  • AHI1 mutations cause both retinal dystrophy and renal cystic disease in Joubert syndrome. 
  • Accuracy of radionuclide imaging in distinguishing renal masses from normal variants. 
  • Acute renal failure in pregnancy associated with solitary kidney, congenital ureteropelvic junction obstruction, and renal cortical cyst. 
  • Biochemical characterization of purified mammalian ARL13B protein indicates that it is an atypical GTPase and ARL3 guanine nucleotide exchange factor (GEF). 
  • Bosniak category IIF and III cystic renal lesions: outcomes and associations. 
  • CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. 
  • Characterization of Incidental Renal Mass With Dual-Energy CT: Diagnostic Accuracy of Effective Atomic Number Maps for Discriminating Nonenhancing Cysts From Enhancing Masses. 
  • Computed tomography of high density renal cysts. 
  • Cystic diseases of the kidney: ciliary dysfunction and cystogenic mechanisms. 
  • DCDC2 mutations cause a renal-hepatic ciliopathy by disrupting Wnt signaling. 
  • Death from renal cyst. 
  • Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. 
  • Detection of renal lesion enhancement with dual-energy multidetector CT. 
  • Developmental cystic renal neoplasms in children. Diagnostic imaging characteristics. 
  • Evaluation of pseudoenhancement of renal cysts during contrast-enhanced CT. 
  • Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 
  • Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signaling. 
  • Focal cystic high-attenuation lesions: characterization in renal phantom by using photon-counting spectral CT--improved differentiation of lesion composition. 
  • Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome. 
  • Hypomorphic mutations in meckelin (MKS3/TMEM67) cause nephronophthisis with liver fibrosis (NPHP11). 
  • Imaging the renal lesion with dual-energy multidetector CT and multi-energy applications in clinical practice: what can it truly do for you? 
  • Impact of dual-energy multi-detector row CT with virtual monochromatic imaging on renal cyst pseudoenhancement: in vitro and in vivo study. 
  • Importance of routine vascular nephrotomography in excretory urography. 
  • Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. 
  • Loss of Arf4 causes severe degeneration of the exocrine pancreas but not cystic kidney disease or retinal degeneration. 
  • Malignant cystic nephroma. 
  • Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. 
  • Mutation of the Mg2+ transporter SLC41A1 results in a nephronophthisis-like phenotype. 
  • Mutations in CSPP1, encoding a core centrosomal protein, cause a range of ciliopathy phenotypes in humans. 
  • Mutations in INVS encoding inversin cause nephronophthisis type 2, linking renal cystic disease to the function of primary cilia and left-right axis determination. 
  • Nephrocystin-3 is required for ciliary function in zebrafish embryos. 
  • Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 
  • Outcomes and complications related to the management of Bosniak cystic renal lesions. 
  • Phenotypic spectrum and prevalence of INPP5E mutations in Joubert syndrome and related disorders. 
  • Pitchfork regulates primary cilia disassembly and left-right asymmetry. 
  • Pseudoenhancement of simple renal cysts: a comparison of single and multidetector helical CT. 
  • Radiological approach to renal cysts and the Bosniak classification system. 
  • Renal cystic disease. 
  • Renal milk of calcium: contraindication to extracorporeal shockwave lithotripsy. 
  • Sonography of small renal masses with indeterminant density characteristics on computed tomography. 
  • Surgical validation of angiographic studies of renal lesions. 
  • Systematic review of TCF2 anomalies in renal cysts and diabetes syndrome/maturity onset diabetes of the young type 5. 
  • TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone. 
  • The NPHP1 gene deletion associated with juvenile nephronophthisis is present in a subset of individuals with Joubert syndrome. 
  • The retinitis pigmentosa protein RP2 interacts with polycystin 2 and regulates cilia-mediated vertebrate development. 
  • The significance of septations in a renal cyst. 
  • Ultrasonographic findings of small hypernephroma associated with renal cyst. 
  • Vertebrate kidney tubules elongate using a planar cell polarity-dependent, rosette-based mechanism of convergent extension. 
  • Whole-exome resequencing distinguishes cystic kidney diseases from phenocopies in renal ciliopathies. 
  • Wnt5a is necessary for normal kidney development in zebrafish and mice. 
  • [Cystic nephroma]. 
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  Keywords of People

  • Davis, Erica Ellen, Associate Professor of Pediatrics, Cell Biology